(menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism
[icd9data.com]
(Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting
[fpnotebook.com]
Symptoms of Saethre-Chotzen syndrome include the following: Craniosynostosis, usually of the lambdoid or coronal sutures High forehead Low set hairline Droopy eyelids Widely
[dellchildrens.net]
The face is typically flat and often asymmetrical with a wide forehead, low frontal hairline, ptosis, hypertelorism, hypoplastic maxilla, deviated nasal septum, high-arched
[accessanesthesiology.mhmedical.com]
Abstract Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority of cases of primary[…]
[nature.com]
Stanford Libraries Search settings american journal of human genetics 21 british journal of haematology 21 nature 11 nature genetics 9 amber waves: the economics of food, farming, natural resources, & rural america 6 biochemical and biophysical research communications 6 blood 6 child education 6 bba - general[…]
[searchworks.stanford.edu]
Increased size of forehead 0002003 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220
[rarediseases.info.nih.gov]
[…] rounded forehead Growth Weight: low weight Laboratory Abnormalities: normal karyotype Skin Nails Hair Hair: frontal upsweep of hair with cowlick Clinical features from OMIM
[malacards.org]
[…] language delay Speech and language difficulties Speech delay [ more ] 0000750 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Large forehead
[rarediseases.info.nih.gov]
Features include malformations of the face (partial mandibular absence, narrow forehead, low hair line) and limbs (small feet and hands, terminal hypoplasia of the toes and
[accessanesthesiology.mhmedical.com]
The disorder is further characterized by facial dysmorphism (partial mandibular absence, narrow forehead, low hairline), malformations of the limbs (small feet and hands,
[accessanesthesiology.mhmedical.com]
[…] nasal bridge Low nasal root [ more ] 0005280 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High forehead 0000348 Hypospadias 0000047 Intellectual
[rarediseases.info.nih.gov]
[…] pubertal growth Pubertal delay [ more ] 0000823 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low
[rarediseases.info.nih.gov]
widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the
[rarediseases.info.nih.gov]
[…] defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead
[rarediseases.info.nih.gov]
Affected infants and children may also have a low hairline on the forehead and the back of the neck, an abnormally short neck with excessive skin folds, unusually long eyelashes
[rarediseases.org]
[…] hairline on the forehead and the back of the neck; and generalized excessive hair growth (hirsutism).
[rarediseases.org]
Affected infants and children also tend to have long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low
[rarediseases.org]
Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia
[ncbi.nlm.nih.gov]
Clinical description Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum
[orpha.net]
[…] nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye
[ncbi.nlm.nih.gov]
0012368 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Hypertelorism Wide-set
[rarediseases.info.nih.gov]
[…] deficiency Underdevelopment of midface [ more ] 0011800 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Pectus carinatum Pigeon chest 0000768 Short
[rarediseases.info.nih.gov]
[…] intellectual disabilities or learning disabilities Eye problems Characteristic facial features (triangular face, wide-spaced eyes, proptosis ("bulging" eyes), narrow mouth, low-set
[rarediseases.info.nih.gov]
Other unusual facial features that can occur in this condition include a low forehead; outside corners of the eyes that point downward (downslanting palpebral fissures); a
[malacards.org]
[…] and low-set ears). monosomie non distale 12q SNOMEDCT-BE (prominent forehead and low-set ears). / 782694003 SNOMEDCT-BE (disorder) / 782694003 Monosomy 12p12.1 syndrome de
[wordscope.com]
Craniofacial features commonly seen with the syndrome include an unusually small head (microcephaly); a narrow skull and high forehead; low-set and/or malformed ears; and/
[rarediseases.org]
[…] a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead
[wordscope.com]
Widow's peak Hairline peak, Hairline point, V-shaped frontal hairline [more] Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
[rarediseases.oscar.ncsu.edu]
widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved
[orpha.net]
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion
[rarediseases.oscar.ncsu.edu]
MorphologicalEpicanthus 2 2 2 2Hypertelorism Broad short nose Short neck Low-set, posteriorlyangulated ears Synophrys 2 2 Flat face Low hairline 2 Narrow forehead ? ?
[docslide.com.br]
[…] or weak muscle tone 0001252 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Narrow forehead Decreased width of the forehead 0000341 Neonatal hypotonia
[rarediseases.info.nih.gov]
We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris
[ncbi.nlm.nih.gov]
low-implanted ears, stenosis of the choana) and digital malformations (polyand clinodactyl hands and feet) typical of OFDS.
[analesdepediatria.org]
Gothic palate, lobulated tongue with lateral frenulae and hamartomas) facial (a small nose with flattened nasal root and hypoplastic nostrils, small facial skeleton, high forehead
[analesdepediatria.org]
Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head (microcephaly), receding forehead, large eyes
[rxlist.com]
Other physical features of the syndrome include a very small head, receding forehead, large ears, low set ears, a protruding nose and small chin.
[fdna.health]
low ears, prominent beaklike protrusion of the nose, and smallish chin.
[rxlist.com]
Posteriorly rotated ears Low-set ears Abnormality of the pinna Wide nasal bridge Short neck Blepharophimosis Upslanted palpebral fissure Narrow chest Muscular hypotonia Global
[familydiagnosis.com]
diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
[malacards.org]
[…] features of the condition may include: 2 Clinical Features of Chromosome 16q22 Deletion Syndrome : High palate Wide anterior fontanel Epicanthus Hypertelorism Micrognathia High forehead
[familydiagnosis.com]
Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head ( microcephaly ), receding forehead, large eyes
[medicinenet.com]
Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head (microcephaly), receding forehead, large eyes
[medicinenet.com]
low ears, prominent beaklike protrusion of the nose, and smallish chin.
[medicinenet.com]
low-set ears, and a triangle-shaped mouth.
[ghr.nlm.nih.gov]
Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism
[ghr.nlm.nih.gov]
[…] and shallow (J-shaped) sella turcica ✓ Characteristic craniofacial features Scaphocephaly, triangular face, high and broad forehead, low nasal bridge and telecanthus ✓ ✓
[academic.oup.com]
[…] predominantly have prenatal growth retardation, failure to thrive, hepatomegaly and characteristic craniofacial features including scaphocephaly, triangular facies, broad forehead
[hopkinsmedicine.org]
His heads circumference was 48 cm (below 3 rd percentile), with abnormal shaped skull, narrow forehead, large and low set ears, micrognathia with malocclusion and a moon shaped
[sjkdt.org]
Although no facial dysmorphism is seen in some patients, others may exhibit dysmorphic features such as a sloping narrow forehead, low-set large floppy ears, a high palate
[hindawi.com]
Clinical Correlations: Infants have a low birth weight due to intrauterine growth retardation.
[disorders.eyes.arizona.edu]
Additional dysmorphic features were noted including midface retrusion, broad forehead, hypertelorism, low-set ears, low nasal bridge with hypoplastic alae nasi, single palmar
[medcraveonline.com]
They usually have dysplastic kidneys with multiple cysts and may also have facial dysmorphism (low-set ears, high forehead, hypertelorism and hypoplastic midface), rocker-bottom
[orpha.net]
The typical facial features include having a low hairline on the forehead, eyes that are spaced far apart (hypertelorism) and slanting downwards, thick eyebrows that may be
[pacs1smiles.org]
[…] connected to each other, long eyelashes, large ears that are set low on the head, and gaps between the teeth.
[pacs1smiles.org]
[…] local excision or Moh's microsurgery to ensure complete removal Radiation reserved for recurrence or lymph node involvement (Case Rep Oncol Med 2012;2012:241816) Generally low
[pathologyoutlines.com]
[…] potential with complete excision (in contrast to nasopharyngeal counterpart) Rare lymph node metastasis (Am J Dermatopathol 2006;28:211) or death from disease Clinical images Forehead
[pathologyoutlines.com]
Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head ( microcephaly ), receding forehead, large eyes
[medicinenet.com]
Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight less than 10th percentile Low birth weight [
[rarediseases.info.nih.gov]
low ears, prominent beaklike protrusion of the nose, and smallish chin.
[medicinenet.com]
[…] double jointed" Inguinal hernias Twisting of blood vessels Bladder diverticula Dysautonomia—inability to regulate parts of the nervous system Chronic diarrhea Coarse hair Low
[en.wikipedia.org]
[…] presents in early to middle childhood. [4] Children may present with features such as: Normal/slightly delayed intelligence Long neck, high arched palate, long face, high forehead
[en.wikipedia.org]
In addition, physical examinations revealed posteriorly rotated low set ears, prominent upper forehead, sublingual nodules, bimanual heptadactyly, bilateral hallucal polysyndactyly
[ncbi.nlm.nih.gov]
